Primary Immunodeficiency Disease Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Moesin deficiency leads to lupus-like nephritis with accumulation of CXCL13-producing patrolling monocytes
Biochem Biophys Res Commun. 2024 Apr 16;712-713:149943. doi: 10.1016/j.bbrc.2024.149943. Online ahead of print.ABSTRACTMoesin is a member of the ezrin-radixin-moesin (ERM) family of proteins that link plasma membrane proteins to the cortical cytoskeleton and thus regulate diverse cellular processes. Mutations in the human moesin gene cause a primary immunodeficiency called X-linked moesin-associated immunodeficiency (X-MAID), which may be complicated by an autoimmune phenotype with kidney involvement. We previously reported that moesin-deficient mice exhibit lymphopenia similar to that of X-MAID and develop a lupus-like au...
Source: Biochemical and Biophysical Research communications - April 19, 2024 Category: Biochemistry Authors: Satoko Ichioka Hiroki Satooka Yoshihiro Maruo Takako Hirata Source Type: research

Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis
CONCLUSIONS: WFDC2 dysfunction defines a novel molecular etiology of bronchiectasis characterized by the deficiency of a secreted component of the airways. A commercially available blood test combined with genetic testing allows its diagnosis. This article is open access and distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/).PMID:38626355 | DOI:10.1164/rccm.202308-1370OC (Source: American Journal of Respiratory and Critical Care Medicine)
Source: American Journal of Respiratory and Critical Care Medicine - April 16, 2024 Category: Respiratory Medicine Authors: Gerard W Dougherty Lawrence E Ostrowski Tabea N öthe-Menchen Johanna Raidt Andre Schramm Heike Olbrich Weining Yin Patrick R Sears Hong Dang Amanda J Smith Achim G Beule Rim Hjeij Niels Rutjies Eric G Haarman Saskia M Maas Thomas W Ferkol Peadar G Noone Source Type: research

Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis
CONCLUSIONS: WFDC2 dysfunction defines a novel molecular etiology of bronchiectasis characterized by the deficiency of a secreted component of the airways. A commercially available blood test combined with genetic testing allows its diagnosis. This article is open access and distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/).PMID:38626355 | DOI:10.1164/rccm.202308-1370OC (Source: Respiratory Care)
Source: Respiratory Care - April 16, 2024 Category: Respiratory Medicine Authors: Gerard W Dougherty Lawrence E Ostrowski Tabea N öthe-Menchen Johanna Raidt Andre Schramm Heike Olbrich Weining Yin Patrick R Sears Hong Dang Amanda J Smith Achim G Beule Rim Hjeij Niels Rutjies Eric G Haarman Saskia M Maas Thomas W Ferkol Peadar G Noone Source Type: research

Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis
CONCLUSIONS: WFDC2 dysfunction defines a novel molecular etiology of bronchiectasis characterized by the deficiency of a secreted component of the airways. A commercially available blood test combined with genetic testing allows its diagnosis. This article is open access and distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/).PMID:38626355 | DOI:10.1164/rccm.202308-1370OC (Source: Am J Respir Crit Car...)
Source: Am J Respir Crit Car... - April 16, 2024 Category: Intensive Care Authors: Gerard W Dougherty Lawrence E Ostrowski Tabea N öthe-Menchen Johanna Raidt Andre Schramm Heike Olbrich Weining Yin Patrick R Sears Hong Dang Amanda J Smith Achim G Beule Rim Hjeij Niels Rutjies Eric G Haarman Saskia M Maas Thomas W Ferkol Peadar G Noone Source Type: research

Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis
CONCLUSIONS: WFDC2 dysfunction defines a novel molecular etiology of bronchiectasis characterized by the deficiency of a secreted component of the airways. A commercially available blood test combined with genetic testing allows its diagnosis. This article is open access and distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/).PMID:38626355 | DOI:10.1164/rccm.202308-1370OC (Source: Respiratory Care)
Source: Respiratory Care - April 16, 2024 Category: Respiratory Medicine Authors: Gerard W Dougherty Lawrence E Ostrowski Tabea N öthe-Menchen Johanna Raidt Andre Schramm Heike Olbrich Weining Yin Patrick R Sears Hong Dang Amanda J Smith Achim G Beule Rim Hjeij Niels Rutjies Eric G Haarman Saskia M Maas Thomas W Ferkol Peadar G Noone Source Type: research

Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis
CONCLUSIONS: WFDC2 dysfunction defines a novel molecular etiology of bronchiectasis characterized by the deficiency of a secreted component of the airways. A commercially available blood test combined with genetic testing allows its diagnosis. This article is open access and distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/).PMID:38626355 | DOI:10.1164/rccm.202308-1370OC (Source: Am J Respir Crit Car...)
Source: Am J Respir Crit Car... - April 16, 2024 Category: Intensive Care Authors: Gerard W Dougherty Lawrence E Ostrowski Tabea N öthe-Menchen Johanna Raidt Andre Schramm Heike Olbrich Weining Yin Patrick R Sears Hong Dang Amanda J Smith Achim G Beule Rim Hjeij Niels Rutjies Eric G Haarman Saskia M Maas Thomas W Ferkol Peadar G Noone Source Type: research

Extensive and deep granulomatous ulcers as an atypical manifestation of cartilage-hair hypoplasia syndrome: A diagnostic and therapeutic challenge
We present a case of a middle-aged man with cartilage hypoplasia syndrome featuring cutaneous granulomas, manifesting as chronic, extensive and deep cutaneous ulcers. The patient was treated with anti-TNF-alpha adalimumab with partial improvement. Our case underscores the broad spectrum of clinical manifestations associated with cartilage hypoplasia syndrome and adds new evidence to the potential therapeutic efficacy of anti-TNF-alpha drugs in its treatment.PMID:38544290 | DOI:10.1111/ajd.14258 (Source: The Australasian Journal of Dermatology)
Source: The Australasian Journal of Dermatology - March 28, 2024 Category: Dermatology Authors: Eduardo Rozas-Mu ñoz Rodrigo Blamey-Diaz Ana Maria Gallardo-Olivos Javiera Jerez Juan-Andres Madariaga Source Type: research

The lack of either IRF9, or STAT2, has surprisingly little effect on human natural killer cell development and function
Immunology. 2024 Mar 21. doi: 10.1111/imm.13779. Online ahead of print.ABSTRACTAnalysis of genetically defined immunodeficient patients allows study of the effect of the absence of specific proteins on human immune function in real-world conditions. Here we have addressed the importance of type I interferon signalling for human NK cell development by studying the phenotype and function of circulating NK cells isolated from patients suffering primary immunodeficiency disease due to mutation of either the human interferon regulatory factor 9 (IRF9) or the signal transducer and activator of transcription 2 (STAT2) genes. IRF9...
Source: Immunology - March 22, 2024 Category: Allergy & Immunology Authors: Ane Calvo-Apalategi Marta L ópez Nevado Luz Yadira Bravo-Gallego Luis Ignacio Gonz ález-Granado Luis M Allende Rebeca Rodr íguez Pena Eduardo L ópez-Granados Hugh T Reyburn Source Type: research

A Case of Female X-linked Chronic Granulomatous Disease Caused by X Chromosome Inactivation Treated with Hematopoietic Stem Cell Transplantation and Literature Review
CONCLUSION: The findings of this study highlight the importance of considering X-CGD in the diagnosis of children and women presenting with granulomatous disease. Furthermore, the use of hematopoietic stem cell transplantation was shown to achieve significant therapeutic effects in the treatment of X-CGD. Further research is warranted to explore early diagnostic strategies for X-CGD and to optimize the use of hematopoietic stem cell transplantation in managing the disease. Early diagnosis and intervention can lead to improved outcomes for patients with X-CGD. This study contributes to the understanding of X-CGD and its tre...
Source: Alternative Therapies in Health and Medicine - March 22, 2024 Category: Complementary Medicine Authors: Wei Lu Xiaoqin Xi Yuanfang Jing Yingjian Si Zhenlan Du Ya Wang Wei Chen Xiangfeng Tang Source Type: research